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Model Textually, View Graphically: Automatic Class Diagram Visualization with Bidirectional Navigation and LSP Support0citations
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Introduction to Galaxy Platform for NGS Variant Calling Pipeline2020 Advancements in Life Sciences (University of the Punjab) article Biochemistry, Genetics and Molecular Biology Genomics and Phylogenetic Studies Open access
Rashid Saif, Aniqa Ejaz, Tania Mehmood, Suliman Mohammad Alghanem, Talha Saleem Ahmad
5citations -
Surgical outcomes after pancreatic surgery in patients with a germline CDKN2A/p16 pathogenic variant under surveillance2023 British journal of surgery article Medicine Pancreatic and Hepatic Oncology Research Open access
Anke M. Onnekink, Nynke Michiels, Derk C.F. Klatte, Lotte Oldenburg, J. Sven D. Mieog, Alexander L. Vahrmeijer, +3 more
3citations -
Antisense oligonucleotide therapy corrects splicing in the common Stargardt disease type 1-causing variant ABCA4 c.5461-10T>C2023 Molecular Therapy — Nucleic Acids article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Melita Kaltak, Davide Piccolo, Sang‐Eun Lee, Kalyan Dulla, Thomas Hoogenboezem, Wouter Beumer, +5 more
41citations -
Leber's hereditary optic neuropathy like disease in MT-ATP6 variant m.8969G>A2024 American Journal of Ophthalmology Case Reports article Biochemistry, Genetics and Molecular Biology Mitochondrial Function and Pathology Open access
Cansu de Muijnck, Mary J. van Schooneveld, Astrid S. Plomp, Richard J. Rodenburg, Maria M. van Genderen, Camiel J. F. Boon
1citations -
Defining and visualizing process execution variants from partially ordered event data2023 Information Sciences article Business, Management and Accounting Business Process Modeling and Analysis Open access
Daniel Schuster, Francesca Zerbato, Sebastiaan J. van Zelst, Wil M. P. van der Aalst
21citations -
Clinical Phenotype and Course of PDE6A -Associated Retinitis Pigmentosa Disease, Characterized in Preparation for a Gene Supplementation Trial2020 JAMA Ophthalmology article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Laura Kuehlewein, Ditta Zobor, Sten Andréasson, Carmen Ayuso, Sandro Banfi, Béatrice Bocquet, +19 more
20citations -
Defining Cases and Variants for Object-Centric Event Data2022 International Conference on Process Mining (ICPM) conference-paper Business, Management and Accounting Business Process Modeling and Analysis cited by 3 patents
Jan Niklas Adams, Daniel Schuster, Seth Schmitz, Günther Schuh, Wil M. P. van der Aalst
45citations -
BIM-Based Public Participation: Insights and Lessons Learned form a Case Study2025 Proceedings of the ... ISARC conference-paper Engineering 3D Modeling in Geospatial Applications Open access
Jonathan Matthei, Maximilian Friedhelm Heinrich Christ, Sven Mackenbach, Katharina Klemt‐Albert
0citations -
Retinal Dystrophies Associated With Peripherin-2: Genetic Spectrum and Novel Clinical Observations in 241 Patients2024 Investigative Ophthalmology & Visual Science article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Rachael C. Heath Jeffery, Jennifer A. Thompson, Johnny Lo, Enid S. Chelva, Sean Armstrong, Jose S. Pulido, +36 more
28citations -
Clinical, Genetic, and Histopathological Characteristics of CRX-associated Retinal Dystrophies2024 Ophthalmology Retina article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Leo C. Hahn, Isa van der Veen, Michalis Georgiou, Mary J. van Schooneveld, Jacoline B. ten Brink, Ralph J. Florijn, +5 more
6citations -
Retinitis Pigmentosa GTPase regulator–Associated Retinal Degeneration: Integrating Patient-Reported Outcomes, Genetic, and Structural Biomarkers2025 Ophthalmology Science article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Nuno Gouveia, Jessica S. Karuntu, Hind Almushattat, Rufino Martins da Silva, Camiel J. F. Boon, João Pedro Marques
4citations